Variant report

Variant	rs1035010
Chromosome Location	chr7:69598328-69598329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10234205	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10234614	0.83[EUR][1000 genomes]
rs10234844	0.82[ASN][1000 genomes]
rs10234892	0.82[EUR][1000 genomes]
rs10235487	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235781	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235860	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10237530	0.82[ASN][1000 genomes]
rs10237685	0.82[ASN][1000 genomes]
rs10251306	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10251416	0.82[ASN][1000 genomes]
rs10256186	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10257549	0.85[ASN][1000 genomes]
rs10258298	0.81[ASN][1000 genomes]
rs10258962	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10268235	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10268924	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10270616	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10273270	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10279392	0.83[AMR][1000 genomes]
rs10280622	0.82[ASN][1000 genomes]
rs1035013	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10452738	0.85[ASN][1000 genomes]
rs10486874	0.81[ASN][1000 genomes]
rs10486875	0.82[ASN][1000 genomes]
rs10499812	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10950199	0.83[EUR][1000 genomes]
rs11508453	0.81[ASN][1000 genomes]
rs11767997	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11978431	0.85[ASN][1000 genomes]
rs12112638	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12155138	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12374873	0.81[ASN][1000 genomes]
rs12698816	0.81[ASN][1000 genomes]
rs12698825	0.87[ASN][1000 genomes]
rs12698830	0.85[ASN][1000 genomes]
rs12698855	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698857	0.81[JPT][hapmap]
rs12698866	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12698871	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12698895	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12698896	0.83[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12698897	0.81[ASN][1000 genomes]
rs13221252	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13226538	0.85[ASN][1000 genomes]
rs13226923	0.82[ASN][1000 genomes]
rs13228123	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237811	0.83[ASN][1000 genomes]
rs1357759	0.83[CEU][hapmap]
rs1404274	0.81[ASN][1000 genomes]
rs1464787	0.83[ASN][1000 genomes]
rs1464788	0.83[ASN][1000 genomes]
rs1474368	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1524518	0.82[ASN][1000 genomes]
rs1558413	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1880368	0.81[ASN][1000 genomes]
rs2159678	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2222544	0.82[EUR][1000 genomes]
rs2280613	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2866075	0.81[AMR][1000 genomes]
rs2866277	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28770244	0.85[ASN][1000 genomes]
rs35222730	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35303761	0.82[ASN][1000 genomes]
rs35696945	0.83[ASN][1000 genomes]
rs3846984	0.81[ASN][1000 genomes]
rs6415223	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6460536	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6460537	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460541	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460542	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6460543	0.81[ASN][1000 genomes]
rs6651055	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944725	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6949651	0.96[ASN][1000 genomes]
rs6950485	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6950647	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951921	0.85[ASN][1000 genomes]
rs6953170	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6954715	0.81[ASN][1000 genomes]
rs6954837	0.81[ASN][1000 genomes]
rs6961164	0.85[ASN][1000 genomes]
rs6961345	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962999	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6963904	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6969375	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6974687	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6975279	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976581	0.81[EUR][1000 genomes]
rs6979355	0.81[ASN][1000 genomes]
rs73442405	0.82[AMR][1000 genomes]
rs7781035	0.89[EUR][1000 genomes]
rs7781401	0.81[EUR][1000 genomes]
rs7781727	0.81[EUR][1000 genomes]
rs7784584	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7787612	0.82[EUR][1000 genomes]
rs7788024	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7790729	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7790934	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7791101	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7792775	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7792964	0.86[EUR][1000 genomes]
rs7794623	0.91[ASN][1000 genomes]
rs7795152	0.87[ASN][1000 genomes]
rs7796080	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7796973	0.81[ASN][1000 genomes]
rs7797340	0.85[ASN][1000 genomes]
rs7798991	0.82[EUR][1000 genomes]
rs7799308	0.82[EUR][1000 genomes]
rs7805470	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808540	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7809303	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7809934	0.85[ASN][1000 genomes]
rs8180850	0.83[EUR][1000 genomes]
rs870920	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs873835	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs877687	0.81[ASN][1000 genomes]
rs9638268	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1035010	VKORC1L1	cis	parietal	SCAN
rs1035010	WBSCR17	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69587000-69599400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69591600-69602400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:69593200-69599200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:69594600-69600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:69595200-69599800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:69595400-69599800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:69596600-69600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:69596800-69598600	Enhancers	HSMM	muscle
9	chr7:69596800-69599400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:69596800-69599400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:69596800-69599800	Enhancers	Fetal Stomach	stomach
12	chr7:69596800-69602200	Enhancers	Fetal Heart	heart
13	chr7:69597000-69599600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:69597200-69598400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:69597200-69599200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:69597200-69599400	Enhancers	Adipose Nuclei	Adipose
17	chr7:69597200-69599600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:69597200-69599600	Enhancers	Brain Anterior Caudate	brain
19	chr7:69597200-69599600	Enhancers	Brain Substantia Nigra	brain
20	chr7:69597400-69598600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:69597400-69599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:69597400-69599400	Enhancers	Brain Hippocampus Middle	brain
23	chr7:69597400-69599600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:69597400-69600000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:69597600-69598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:69597600-69599600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:69597800-69598600	Enhancers	Fetal Thymus	thymus
28	chr7:69597800-69599000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:69597800-69599400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:69597800-69601800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:69598000-69598400	Weak transcription	Left Ventricle	heart
32	chr7:69598000-69599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:69598000-69599000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:69598000-69599400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:69598000-69599600	Enhancers	Fetal Lung	lung
36	chr7:69598000-69601000	Enhancers	Brain Germinal Matrix	brain
37	chr7:69598000-69601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:69598000-69602800	Enhancers	Fetal Brain Female	brain
39	chr7:69598200-69599000	Weak transcription	Brain Angular Gyrus	brain
40	chr7:69598200-69599200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:69598200-69603400	Enhancers	Fetal Brain Male	brain

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